Author/Authors :
M.A. Al Herz، نويسنده , , Waleed and Ragupathy، نويسنده , , Raj and Massaad، نويسنده , , Michel J. and Al-Attiyah، نويسنده , , Rajaʹa and Nanda، نويسنده , , Arti and Engelhardt، نويسنده , , Karin R. and Grimbacher، نويسنده , , Bodo and Notarangelo، نويسنده , , Luigi and Chatila، نويسنده , , Talal and Geha، نويسنده , , Raif S. Geha، نويسنده ,
Abstract :
Deficiency of dedicator of cytokinesis 8 (DOCK8) is a newly described combined primary immunodeficiency disease. It was found to account for 15% of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. We present the clinical, immunologic and molecular characteristics of 9 Kuwaiti patients with DOCK8 deficiency and discuss differences that distinguish DOCK8 deficiency from atopic dermatitis. Clinical immunologists in areas with high incidence of consanguinity should have a high index of suspicion of DOCK8 deficiency in children with recalcitrant eczema, recurrent non-cutaneous infections and lymphopenia.
Keywords :
DOCK8 deficiency , Combined immunodeficiency , Eczema , IGE , Kuwait , Consanguinity
